Variant report

Variant	rs6050131
Chromosome Location	chr20:24900535-24900536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11087486	0.91[ASN][1000 genomes]
rs11906373	0.83[ASN][1000 genomes]
rs1331286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1535042	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1854849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1977540	0.93[ASN][1000 genomes]
rs2151462	0.83[ASN][1000 genomes]
rs2151463	0.83[ASN][1000 genomes]
rs227598	0.81[EUR][1000 genomes]
rs227614	0.81[ASN][1000 genomes]
rs227616	0.83[ASN][1000 genomes]
rs227619	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227620	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227621	0.83[ASN][1000 genomes]
rs227622	0.83[ASN][1000 genomes]
rs227623	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227624	0.83[ASN][1000 genomes]
rs227625	0.83[ASN][1000 genomes]
rs227626	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227627	0.81[ASN][1000 genomes]
rs227628	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227629	0.83[ASN][1000 genomes]
rs227630	0.83[ASN][1000 genomes]
rs227631	0.83[ASN][1000 genomes]
rs227632	0.83[ASN][1000 genomes]
rs227633	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227634	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227635	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227639	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227643	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227646	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227648	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227650	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227651	0.83[ASN][1000 genomes]
rs227652	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227653	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227657	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227658	0.83[ASN][1000 genomes]
rs227659	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2387365	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424691	0.83[ASN][1000 genomes]
rs4273288	0.93[ASN][1000 genomes]
rs4539860	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45468392	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45556041	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4594518	0.86[ASN][1000 genomes]
rs4815325	0.85[ASN][1000 genomes]
rs4815327	0.93[ASN][1000 genomes]
rs58244398	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036976	0.93[ASN][1000 genomes]
rs6050118	0.86[ASN][1000 genomes]
rs6050134	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6132775	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6132777	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6132778	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6132783	0.82[EUR][1000 genomes]
rs6138406	0.86[ASN][1000 genomes]
rs6138438	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6138442	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6138455	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6138456	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6138457	0.81[ASN][1000 genomes]
rs6138460	0.82[EUR][1000 genomes]
rs6138463	0.80[EUR][1000 genomes]
rs62215110	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62215115	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62215128	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62215131	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6707	0.81[ASN][1000 genomes]
rs8125909	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs914314	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv432115	chr20:24871385-24915839	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058559	chr20:24880415-24923818	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1061536	chr20:24880777-24930642	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060158	chr20:24887819-24918081	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1066090	chr20:24887819-24923818	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1065568	chr20:24887819-24925706	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv510783	chr20:24889192-24941933	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv524921	chr20:24897355-24932028	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv964444	chr20:24899460-24934649	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv2752899	chr20:24899800-24923800	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6050131	CST7	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24898400-24900600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:24898600-24901400	Enhancers	Placenta	Placenta
3	chr20:24898800-24901600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:24899200-24900600	Enhancers	Pancreas	Pancrea
5	chr20:24899200-24901000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:24899200-24902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:24899400-24902000	Enhancers	Ovary	ovary
8	chr20:24899600-24901000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:24899800-24900600	Weak transcription	Fetal Lung	lung
10	chr20:24899800-24900800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:24900000-24901200	Weak transcription	Fetal Muscle Leg	muscle
12	chr20:24900400-24906400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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